17909[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 89

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 59795	GRCh38/hg38 12p13.33-12.1(chr12:80412-25470329)x3	A2M, A2M-AS1 +1009 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 153563	GRCh38/hg38 12p13.33-12.2(chr12:1258274-20657577)x3	A2M, A2M-AS1 +853 more	Copy number gain	See cases	GPathogenic
Select item 148626	GRCh38/hg38 12p13.33-12.3(chr12:2871741-14987348)x3	LOC130007190, LOC130007191 +698 more	Copy number gain	See cases	GPathogenic
Select item 154815	GRCh38/hg38 12p13.2-12.3(chr12:11121039-15908154)x1	APOLD1, ARHGDIB +238 more	Copy number loss	See cases	GLikely pathogenic
Select item 57166	GRCh38/hg38 12p13.2-13.1(chr12:11771233-13547775)x1	APOLD1, BCL2L14 +121 more	Copy number loss	See cases	GPathogenic
Select item 2665013	GRCh38/hg38 12p13.2-13.1(chr12:12003929-12652405)	DUSP16, LOC124625907 +54 more	Copy number gain	not provided	GUncertain significance
Select item 146005	GRCh38/hg38 12p13.2-12.3(chr12:12363649-15280588)x1	APOLD1, ARHGDIB +137 more	Copy number loss	See cases	GPathogenic
Select item 58986	GRCh38/hg38 12p13.2-12.3(chr12:12388842-15540422)x1	APOLD1, ARHGDIB +140 more	Copy number loss	See cases	GPathogenic
Select item 2220778	NM_030640.3(DUSP16):c.1967C>T (p.Ser656Leu)	DUSP16 (S656L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274049	NM_030640.3(DUSP16):c.1904G>T (p.Ser635Ile)	DUSP16 (S635I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086279	NM_030640.3(DUSP16):c.1898G>T (p.Gly633Val)	DUSP16 (G633V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359219	NM_030640.3(DUSP16):c.1873C>T (p.Arg625Cys)	DUSP16 (R625C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476537	NM_030640.3(DUSP16):c.1792C>T (p.Arg598Cys)	DUSP16 (R598C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593448	NM_030640.3(DUSP16):c.1780G>A (p.Val594Ile)	DUSP16 (V594I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376257	NM_030640.3(DUSP16):c.1715T>C (p.Ile572Thr)	DUSP16 (I572T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550561	NM_030640.3(DUSP16):c.1700A>G (p.Tyr567Cys)	DUSP16 (Y567C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086278	NM_030640.3(DUSP16):c.1643C>T (p.Thr548Ile)	DUSP16 (T548I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608561	NM_030640.3(DUSP16):c.1586C>T (p.Thr529Met)	DUSP16 (T529M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236582	NM_030640.3(DUSP16):c.1552C>T (p.Leu518Phe)	DUSP16 (L518F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274051	NM_030640.3(DUSP16):c.1501T>C (p.Ser501Pro)	DUSP16 (S501P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382130	NM_030640.3(DUSP16):c.1457C>T (p.Ser486Leu)	DUSP16 (S486L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086277	NM_030640.3(DUSP16):c.1355C>G (p.Ser452Trp)	DUSP16 (S452W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261502	NM_030640.3(DUSP16):c.1312G>A (p.Gly438Arg)	DUSP16 (G438R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642737	NM_030640.3(DUSP16):c.1158C>T (p.Ser386=)	DUSP16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3086276	NM_030640.3(DUSP16):c.1124C>T (p.Pro375Leu)	DUSP16 (P375L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 771457	NM_030640.3(DUSP16):c.1080_1083del (p.Pro361fs)	DUSP16 (P361fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 2642738	NM_030640.3(DUSP16):c.1080G>A (p.Val360=)	DUSP16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3086275	NM_030640.3(DUSP16):c.1075A>G (p.Ser359Gly)	DUSP16 (S359G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086274	NM_030640.3(DUSP16):c.1072G>A (p.Ala358Thr)	DUSP16 (A358T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327278	NM_030640.3(DUSP16):c.1042G>A (p.Glu348Lys)	DUSP16 (E348K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086284	NM_030640.3(DUSP16):c.988G>A (p.Gly330Arg)	DUSP16 (G330R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086283	NM_030640.3(DUSP16):c.980C>T (p.Ser327Leu)	DUSP16 (S327L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242486	NM_030640.3(DUSP16):c.925A>G (p.Ser309Gly)	DUSP16 (S309G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205791	NM_030640.3(DUSP16):c.916G>C (p.Gly306Arg)	DUSP16 (G306R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401156	NM_030640.3(DUSP16):c.908G>A (p.Gly303Glu)	DUSP16 (G303E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598692	NM_030640.3(DUSP16):c.890A>T (p.Lys297Met)	DUSP16 (K297M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274047	NM_030640.3(DUSP16):c.805G>A (p.Glu269Lys)	DUSP16 (E269K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274048	NM_030640.3(DUSP16):c.775A>G (p.Ile259Val)	DUSP16 (I259V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642739	NM_030640.3(DUSP16):c.768C>T (p.Ile256=)	DUSP16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 723986	NM_030640.3(DUSP16):c.663G>T (p.Pro221=)	DUSP16	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2480066	NM_030640.3(DUSP16):c.623G>A (p.Arg208His)	DUSP16 (R208H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086282	NM_030640.3(DUSP16):c.613C>T (p.His205Tyr)	DUSP16 (H205Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615505	NM_030640.3(DUSP16):c.607G>A (p.Glu203Lys)	DUSP16 (E203K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457901	NM_030640.3(DUSP16):c.494A>G (p.Asn165Ser)	DUSP16 (N165S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247448	NM_030640.3(DUSP16):c.421A>G (p.Thr141Ala)	DUSP16 (T141A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293776	NM_030640.3(DUSP16):c.329A>G (p.Lys110Arg)	DUSP16 (K110R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715517	NM_030640.3(DUSP16):c.229-7A>C	DUSP16	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2290808	NM_030640.3(DUSP16):c.218C>T (p.Ala73Val)	DUSP16 (A73V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274050	NM_030640.3(DUSP16):c.124A>G (p.Ile42Val)	DUSP16 (I42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260225	NM_030640.3(DUSP16):c.71A>G (p.Glu24Gly)	DUSP16 (E24G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086281	NM_030640.3(DUSP16):c.41G>A (p.Arg14Lys)	DUSP16 (R14K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086280	NM_030640.3(DUSP16):c.27A>C (p.Gln9His)	DUSP16 (Q9H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371972	NM_030640.3(DUSP16):c.7C>A (p.His3Asn)	DUSP16 (H3N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2506545	GRCh37/hg19 12p13.2-13.1(chr12:11463270-14019142)	APOLD1, BCL2L14 +19 more	Copy number loss	Intellectual disability	GPathogenic
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	DENND5B, DERA +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 1711362	GRCh37/hg19 12p13.2-12.1(chr12:10853887-24103810)x1	C12orf60, YBX3 +85 more	Copy number loss	not provided	GPathogenic
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 1527669	GRCh37/hg19 12p13.33-12.1(chr12:173786-25286865)	A2ML1, ABCC9 +235 more	Copy number gain	not specified	GPathogenic
Select item 1436741	NC_000012.11:g.(?_11803062)_(15835885_?)dup	APOLD1, ARHGDIB +32 more	Duplication	Developmental and epileptic encephalopathy, 27 +1 more	GUncertain significance
Select item 815505	GRCh37/hg19 12p13.2-12.3(chr12:11737824-16780886)x1	APOLD1, ARHGDIB +37 more	Copy number loss	not provided	GPathogenic
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 625809	GRCh37/hg19 12p13.33-12.3(chr12:189216-15001420)	A2M, A2ML1 +193 more	Copy number gain	not provided	GPathogenic
Select item 625596	GRCh37/hg19 12p13.2-13.1(chr12:10336209-13535349)	APOLD1, BCL2L14 +47 more	Copy number loss	Multiple endocrine neoplasia type 4	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563981	GRCh37/hg19 12p13.2-13.1(chr12:10717428-14032860)x1	APOLD1, BCL2L14 +40 more	Copy number loss	not provided	GPathogenic
Select item 563918	GRCh37/hg19 12p13.2(chr12:12546745-12773521)x3	BORCS5, CREBL2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 443532	GRCh37/hg19 12p13.33-11.22(chr12:173786-28219229)x3	A2M, A2ML1 +256 more	Copy number gain	See cases	GPathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 221389	GRCh37/hg19 12p13.2-13.1(chr12:12419642-13256423)x3	APOLD1, BORCS5 +12 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance
Select item 221369	chr12:10074776-18800953 complex variant	APOLD1, ARHGDIB +79 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 89